BoneKEy Reports | BoneKEy Watch

Strong suggestion of a genetic component in sagittal craniosynostosis

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DOI:10.1038/bonekey.2013.38

Sagittal craniosynostosis, a condition in which the cranial bones fuse too early, affects around one in every 5000 newborn babies. Using 130 European families (affected child plus both parents), Justice et al. carried out a genome-wide association study (GWAS) for the nonsyndromic form of the disease, which is responsible for 80% of cases. A total of 21 single nucleotide polymorphisms (SNPs) that reached genome-wide significance were identified.

The most significant SNP was located on chromosome 20, downstream of BMP2, the gene that encodes bone morphogenetic protein 2. A further three SNPs were found on chromosome 7p14, within intronic regions of BBS9, a gene that encodes part of the BBSome multiprotein complex. BBS9 mutations have been associated with Bardet–Beidl syndrome and may be responsible for functional defects in cilia assembly and signaling. The associations to both gene loci were replicated in a second population with European ancestry.

Editor’s comment: The findings strongly suggest that sagittal craniosynostosis has a genetic component. Unsurprisingly, both the BMP2 and BBS9 genes have roles in skeletal development and ossification, providing the opportunity to further characterize their roles in this disease.

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